Where to start? My Genetic Genie results and fear I screwed up already ...

Hello everyone ... I ran my 23andme results through Genetic Genie at the end of the summer after I started some supplementation a few months earlier. I also didn't pay enough attention to my results, missing the possible importance of addressing my CBS mutation first :/

Methylation:
Heterozygous mutations (+/-)

VDR Bsm

VDR Taq

MAO A R297R

MTHFR C677T
MTHFR A1298C

MTR A2756G

MTRR A66G

MTRR R415T

MTRR A664A

CBS C699T

CBS A360A

Detox Profile:
Homozygous mutations (+/+)

CYP1B1 L432V

CYP1B1 R48G

CYP2D6 S486T

CYP2D6 2850C>T

GSTP1 I105V

Heterozygous mutations (+/-)

CYP2C9*3 A1075C

CYP2E1*B 9896C>G

SOD2 A16V

NAT2 I114T

NAT2 R197Q

*GSTT1 present

I also looked up SUOX on my 23andme and came up with CT for SUOX (rs705703) and ACE (rs4343) as AG. I'm assuming that means I'm heterozygous for both?

I had bloodwork done in early August and late October.

Vitamin D: 68 (Aug) and 38.3 (Oct).
- supplemented 2000 IU the entire time, only difference -- lost an hour of being out in the sun daily with the colder weather

B-12: 630 (Aug) and 1878 (Oct). Three-fold jump?! In September I switched to Jarrow methyl B-12 5000mg and 800 Solgar folate. Frustration level plummeted, anxiety went sky high so I cut the dosage in half and seem to tolerate it. It makes me wonder if the B12 is that high because it's going nowhere ...

In August they also ran the following:

Folate RBC
- hemocrit: 37.0
- rbc folate: 698

I also had a comprehensive metabolic panel done and a CBC with differential. A functional med doctor I know online took a quick look at the results and said:

My confusion lies in what do I address first? Before I noticed my CBS mutation I started to take glutathione (50mg) -- then stopped after about 3-4 weeks when realizing it might be a huge mistake. Since then, I've noticed my cognitive issues gotten so much worse. I worry that I screwed myself somehow with trying to fix the methylation cycle/glutathione first

My biggest issue is the brain fog/cognitive issues/memory. The fatigue is dealable right now, especially with Vyvanse (30mg). I have no gut or digestive issues bothering me. Even though I have GERD I never get heartburn. I just have issues swallowing pills from it -- so finding supplements I can take are more difficult since some only come in big pill form

Does it appear my CBS mutations are affecting me? I am willing to try the strict low sulfur diet if it seems like it would help. I bet I also need a heavy metals detox -- mostly mercury -- as I used to have a mouthful of fillings. They were all removed over the years but not with detox in mind.

Any recommendations for what to tackle first? Should I bother investing in sulfate strips? I'm totally lost and overwhelmed and having cognitive issues isn't helping lol. Any crucial testing I need done? Money is a bit of an issue but if it's essential I can probably swing it. Hopefully a new me in 2014 ...

Where is your TSH, FT3, FT4? Do you supplement iodine, selenium, thyrosine?
GERD.....do you take H2 blockers? Which one?
I doubt Hetroz CBS is a problem, but $35 worth of sulfate strips will confirm this.
Do you know your Homocystiene level?

Where is your TSH, FT3, FT4? Do you supplement iodine, selenium, thyrosine?
GERD.....do you take H2 blockers? Which one?
I doubt Hetroz CBS is a problem, but $35 worth of sulfate strips will confirm this.
Do you know your Homocystiene level?

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I don't know my T3 but my free T4 is 1.27 (overall TSH 0.10) and my homocysteine level is 4.84. I have an appointment with my regular doctor for the end of January and will try to get new levels on things ... basically anything I can push through with my insurance. I take levothyroxine 100mcg for my thyroid and have been on that same dose for about 20 yrs.

I rarely ever take anything for the GERD. I really have no GERD symptoms but the few times I have, I take prevacid. I used to have really bad dysphagia where my throat would just close, feel like it was spasming, and anything that was in there I'd have to throw up. Once I did, I was fine and could eat normally. At worst -- it was once a day. I noticed after I started all my supplements back in April -- I haven't had any issues with my throat spasming like that. I haven't tried to swallow any big pills though. But it would spasm over nothing. The tiniest bit of food, even after drinking something. No correlation to what I ate to my throat reacting. One gastroenterologist about 6 years ago had me swallow a pill intentionally to make it spasm so he could see where it was catching. It feels like it's my throat but he said it's really lower down. I've had 3 endoscopies to stretch my throat -- which helped -- but honestly, the supplementation seems to be the most effective of all. I have no idea which one but guessing maybe getting the B12 levels higher?

I'm taking the B12 sublingually. I read about how it's not absorbed well under the tongue and that it should sit there at least 45 min - 2 hours to get the most of it. I switched to putting it between my cheek and upper gum. It lasts longer there and I do get it to stay for at least 45 min - an hour. I have sublingual D3 as well and I switched to that method too. I've been doing it this new way for about 2 weeks ... can't say I notice any difference though.

I can't swallow any pills (they set off my dysphagia and my throat will close and spasm) so I try to buy liquids, sublinguals or things I can crush or chew. Actually, I'm chewing my folate -- I hope that's not my issue!

1. don't waste time or money on CBS or sulfate strips. You're hetero, so you'll just be a little more efficient, not much, at processing homocysteine.

2. you could probably do with some more metafolin since you have both MTHFR mutation heterozygous. have you tried increasing metafolin without changing anything else?

3. when you were taking glutathione, did the symptoms worsen when you started it or when you stopped it? personally, I have no idea why some people do well supplementing it and some people crash supplementing it. One person I know who benefits from it has hashimotos - which is not at all saying that people with hashi's should take it. I'm just wondering if you did damage starting it or stopping it or if your cognitive decline had nothing to do with it. we are all so unique and so many things change at once, cause and coincidence can be hard to tell apart.

@Fairuza, About your thyroid medication. Thyroxine is a poor choice for many of us. Dr. John Lowe spent decades investigating thyroid and it's relationship to FMS. Unfortunately, his voluminous website has disappeared since his death, due to some sort of dispute. I'm listing below some other sites that might give you further info re thyroid meds. It's probably wise to have a Reverse T3 (rT3) level taken. Lowe argues strongly that measuring TSH is useless.

Re. CBS, I only have heterozygous, but it has big effects. I've had many positive results from eliminating sulfur in my diet. Sulfur strips have always measured me at the 2nd lowest mark, which is considered ok. But when I initially stopped all sulfur (high thiol) foods, my eczema cleared 50% overnight. Eliminating histamines cleared the remainder. Histamines could contribute to your dysphagia. Eliminating sulfur also relieved me pain and stuckness in joints. More recently, switching from high to low-dose B vitamins released another sulfur burden, and a glitch in my shoulder resolved. A simple way to proceed is to try eliminating one or both of these food groups to see if there's any change in your symptoms. I'm adding links for both with food lists.

You might well need more zinc w/ your MTHFR defects, as well as P5P form of B6. These 2 things made big differences for me. Also molybdenum, manganese. Here's to a great 2014. I got my results a year ago, the changes I've been able to make in my diets and supps have changed my life enormously during this year. May it be the same for you. cheers, ahmo

1. don't waste time or money on CBS or sulfate strips. You're hetero, so you'll just be a little more efficient, not much, at processing homocysteine.

2. you could probably do with some more metafolin since you have both MTHFR mutation heterozygous. have you tried increasing metafolin without changing anything else?

3. when you were taking glutathione, did the symptoms worsen when you started it or when you stopped it? personally, I have no idea why some people do well supplementing it and some people crash supplementing it. One person I know who benefits from it has hashimotos - which is not at all saying that people with hashi's should take it. I'm just wondering if you did damage starting it or stopping it or if your cognitive decline had nothing to do with it. we are all so unique and so many things change at once, cause and coincidence can be hard to tell apart.

to a new you in 2014! and new me, and new rest of us!

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Thanks Critterina I saw all the warnings about addressing the CBS mutation first and how adding glutathione could be a big problem for those with it. I didn't really notice any changes when I took the glutathione per se -- just got scared after taking it for a few weeks (when I saw the CBS warnings about it).

I started out on 800mg metafolin (of course I didn't read carefully enough about easing one's way up to that dose) but I did notice I became very agitated with a low frustration level -- which returned to normal after I cut back to 400. I've been on 400 for about 2 months and seem to tolerate it just fine. Should I try upping it slowly?

I was afraid if my CBS was an issue ... that I was overmethylating and it had no place to go. I wish I had found these forums before I tried to fix myself :/ I hope if I did do damage it's nothing permanent. I also wondered if the CBS was affecting me because my B-12 levels tripled after switched to methyl B-12 and folate in the span of 2 months.

So I'm ready to tackle everything the correct way for 2014 ... if I am confident I'm going to do it right lol

@Fairuza, About your thyroid medication. Thyroxine is a poor choice for many of us. Dr. John Lowe spent decades investigating thyroid and it's relationship to FMS. Unfortunately, his voluminous website has disappeared since his death, due to some sort of dispute. I'm listing below some other sites that might give you further info re thyroid meds. It's probably wise to have a Reverse T3 (rT3) level taken. Lowe argues strongly that measuring TSH is useless.

Re. CBS, I only have heterozygous, but it has big effects. I've had many positive results from eliminating sulfur in my diet. Sulfur strips have always measured me at the 2nd lowest mark, which is considered ok. But when I initially stopped all sulfur (high thiol) foods, my eczema cleared 50% overnight. Eliminating histamines cleared the remainder. Histamines could contribute to your dysphagia. Eliminating sulfur also relieved me pain and stuckness in joints. More recently, switching from high to low-dose B vitamins released another sulfur burden, and a glitch in my shoulder resolved. A simple way to proceed is to try eliminating one or both of these food groups to see if there's any change in your symptoms. I'm adding links for both with food lists.

You might well need more zinc w/ your MTHFR defects, as well as P5P form of B6. These 2 things made big differences for me. Also molybdenum, manganese. Here's to a great 2014. I got my results a year ago, the changes I've been able to make in my diets and supps have changed my life enormously during this year. May it be the same for you. cheers, ahmo

I've actually thought about tackling my thyroid issues after the MTHFR lol. I agree about levothyroxine being a poor way to deal with it. I've looked into it a little bit and definitely want to see what I can do once the other stuff seems to be working better.

I have a question for you about the sulphur foods. Did you ever notice any issues from them when you had them in your diet -- like digestive problems with them? I probably ate the most sulphur foods over the past 8 months and my skin has been better than it's ever been. I've never had eczema or psoriasis.

I'm also curious (if anyone has an answer) about this. Since I was young I suffered from seasonal allergies, hayfever, which turned into full-blown asthma by age 18. When I lived in the Northeast my asthma was very hard to control. I lived on bronchodilators, rounds of prednisone ... then moved to the Southwest where I'd say it became manageable. I still had seasonal allergies though and had to use my inhaler daily -- but no steroids really and only one trip to the ER. I had my daughter 7 yrs ago, then moved to Texas a year later. I was concerned that going from a dry climate where I felt better to a humid one would greatly impact my asthma/allergies. Bizarrely ... my asthma and allergies VANISHED. I have no explanation. When everyone is dying here from the pollen -- I don't even sneeze! I've used an inhaler maybe 3x in the past 6 yrs -- usually when I've been tight from bronchitis. If those are autoimmune issues ... how do they suddenly reverse themselves like that? I battled chronic sinus infections ... and now I'm never stuffed up. It's awesome .... but I can't figure it out lol!

Thank you for the recommendations ... they were on my list to add into my protocol too I hope you have a wonderful and healthy 2014!